Canonical Allele Identifier: CA352134890

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38524001G>T (hg19) ; chr3:g.38482510G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482510G>T , CM000665.2:g.38482510G>T	GRCh38
NC_000003.11:g.38524001G>T , CM000665.1:g.38524001G>T	GRCh37
NC_000003.10:g.38499005G>T	NCBI36
NG_011791.1:g.33212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1294G>T MANE Select	ENSP00000340361.3:p.Val432Leu
ENST00000352511.4:c.1294G>T	ENSP00000340361.3:p.Val432Leu
ENST00000461232.1:n.5083G>T
ENST00000465020.5:n.1380G>T
NM_001106.3:c.1294G>T	NP_001097.2:p.Val432Leu
XM_005265583.2:c.1357G>T	XP_005265640.1:p.Val453Leu
XM_005265583.3:c.1357G>T	XP_005265640.1:p.Val453Leu
XM_017007514.1:c.1336G>T	XP_016863003.1:p.Val446Leu
XM_017007515.2:c.1312G>T	XP_016863004.1:p.Val438Leu
XM_017007516.1:c.1291G>T	XP_016863005.1:p.Val431Leu
NM_001106.4:c.1294G>T MANE Select	NP_001097.2:p.Val432Leu